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Serum cholinesterase in the mothers of neural tube defect progeny
Author(s) -
Lawrie S. S.,
Thomson I.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb00749.x
Subject(s) - neural tube , cholinesterase , neural tube defect , genetics , medicine , biology , endocrinology , embryo
Human Serum Cholinesterase activity and polymorphism at its two gene loci, CHE1 and CHE2 , were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non‐pregnant control group. Variants at the CHE1 locus were identified by dibucaine, fluoride and R02 0683 inhibition. The CHE2 phenotype was demonstrated by DISC polyacrylamide gel electrophoresis. Total HSChE activity in the pregnant groups was slightly less than in the control group but there was no difference in activity between the affected and the normal pregnancies. Three variants were identified. All were found in the non‐affected pregnant group. One variant at CHE1 was identified, an I phenotype, and two C 5 + phenotypes, the CHE2 variant. No obvious relationships were found between HSChE activity or a particular genetic variant and NTD progeny.